Incidental Mutation 'IGL01490:Asb16'
ID 88835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asb16
Ensembl Gene ENSMUSG00000034768
Gene Name ankyrin repeat and SOCS box-containing 16
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.257) question?
Stock # IGL01490
Quality Score
Status
Chromosome 11
Chromosomal Location 102159577-102170280 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102167575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 314 (N314Y)
Ref Sequence ENSEMBL: ENSMUSP00000038450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036467]
AlphaFold Q8VHS5
Predicted Effect probably damaging
Transcript: ENSMUST00000036467
AA Change: N314Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038450
Gene: ENSMUSG00000034768
AA Change: N314Y

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
Blast:ANK 56 85 3e-9 BLAST
ANK 110 139 5.29e0 SMART
ANK 142 171 2.1e-3 SMART
ANK 175 204 5.93e-3 SMART
ANK 209 238 1.4e1 SMART
ANK 242 279 9.21e0 SMART
ANK 283 312 2.18e-1 SMART
Blast:ANK 316 352 7e-17 BLAST
Blast:ANK 354 379 2e-8 BLAST
SOCS_box 408 447 1.26e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Asb16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1540:Asb16 UTSW 11 102,163,402 (GRCm39) missense probably benign 0.37
R1589:Asb16 UTSW 11 102,159,821 (GRCm39) missense probably damaging 1.00
R1845:Asb16 UTSW 11 102,167,582 (GRCm39) missense possibly damaging 0.54
R2379:Asb16 UTSW 11 102,163,357 (GRCm39) missense probably benign 0.00
R3686:Asb16 UTSW 11 102,159,885 (GRCm39) missense probably benign 0.19
R4591:Asb16 UTSW 11 102,167,551 (GRCm39) missense probably damaging 0.97
R5205:Asb16 UTSW 11 102,159,820 (GRCm39) missense probably damaging 1.00
R6505:Asb16 UTSW 11 102,167,303 (GRCm39) missense probably damaging 0.99
R6649:Asb16 UTSW 11 102,159,863 (GRCm39) missense possibly damaging 0.56
R7275:Asb16 UTSW 11 102,159,935 (GRCm39) missense probably damaging 1.00
R7436:Asb16 UTSW 11 102,163,481 (GRCm39) missense possibly damaging 0.87
R7828:Asb16 UTSW 11 102,168,753 (GRCm39) missense probably benign 0.02
R7935:Asb16 UTSW 11 102,168,739 (GRCm39) missense probably benign
R8863:Asb16 UTSW 11 102,168,058 (GRCm39) missense probably damaging 1.00
R9696:Asb16 UTSW 11 102,159,766 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18